A variant of osteogenesis imperfecta type IV with resolving kyphomelia is caused by a novel COL1A2 mutation.
A variant of osteogenesis imperfecta type IV with resolving kyphomelia is caused by a novel COL1A2 mutation.
复制标题
IV 型成骨不全症的一种变体（可解决后凸畸形）是由一种新的 COL1A2 突变引起的。
DOI：
10.1136/jmg.39.2.128
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发表时间：
2002
影响因子：
4
通讯作者：
Robin,NH
中科院分区：
文献类型：
--
作者：
Johnson,MT;Morrison,S;Heeger,S;Mooney,S;Byers,PH;Robin,NH
高度近视常表现为家族性疾病。它通常被定义为每只眼睛的屈光误差等于或低于-6屈光度（D）。1高度近视患者占近视人群的27-33%。2该疾病在一般人群中的患病率因国家而异，美国为2.1%，法国为2%至3.2%，西班牙为9.6%。3高度近视由于其潜在的并发症也被称为“病理性”近视。高度近视眼的特征通常是异常延长和后部葡萄肿。高度近视的病因有多种，如青光眼、白内障、黄斑变性、视网膜脱离等，严重时可导致失明。遗传因素和环境因素（如近距离工作）都是导致高度近视的重要因素。这种疾病的遗传性是不明确的。一些系谱学研究表明常染色体显性或常染色体隐性遗传方式。4 5已观察到罕见的性连锁传播病例。[6]在以前的研究中，我们发现，假设是单基因模型，常染色体显性遗传和弱遗传在我们研究的家族中大部分存在。Young等最近报道了家族性高度近视与染色体18 p8和12 q区域的连锁。[9]我们之前没有发现与我们研究的家族中前一个染色体区域连锁的证据。在这些家族中也排除了几个假定的候选基因座，例如Stickler综合征1型和2型、多功能蛋白聚糖和聚集蛋白基因、马凡1综合征和马凡样疾病定位于3 p24的基因座。2-p25
High myopia often appears as a familial disease. It is usu-ally defined as a refraction error equal to or below− 6 diopters (D) in each eye. 1 Highly myopic patients represent 27-33% of the myopic population. 2 The prevalence of the disease in the general population varies according to the country, from 2.1% in the USA, 2 to 3.2% in France, 3 and up to 9.6% in Spain. 3 High myopia is also termed “pathological” myopia because of its potential complications. The highly myopic eye is usually characterised by an abnormal lengthening and a posterior staphyloma. It is often accompanied by glaucoma, cataracts, macular degeneration, and retinal detachment, leading to blindness when the damage to the retina is extremely severe.Both genetic and environmental factors, such as close work, are known to play a role in the aetiology of high myopia. The inheritance of the disease is equivocal. Several genealogical studies have shown autosomal dominant or autosomal recessive modes of inheritance. 4 5 Rare cases of sex linked transmission have been observed. 6 In a previous study, 7 we showed that, assuming a single gene model, autosomal dominant transmission with weak penetrance was largely present in the families that we studied. Young et al have recently reported linkage of familial high myopia to chromosome regions 18p8 and 12q. 9 We previously found no evidence for linkage to the former chromosomal region in the families of our study. Several putative candidate loci were excluded as well in these families, such as the locus for Stickler syndrome types 1 and 2, versican and aggregan genes, Marfan 1 syndrome, and a Marfan-like disorder localised to 3p24. 2-p25.